SNP Shot: Genomic Insights

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome primarily impacts the female reproductive system. This condition results in an underdeveloped or absent vagina and uterus, despite normal external genitalia. Consequently, individuals with MRKH syndrome typically do not experience menstruation due to the lack of a uterus. The absence of menstruation by age 16 (primary amenorrhea) is often the first indication of the syndrome. Individuals affected by MRKH syndrome possess a standard female chromosome configuration (46,XX), normally functioning ovaries, and develop breasts and pubic hair as expected. While pregnancy is usually not possible, these individuals can often conceive through assisted reproductive technologies.

MRKH syndrome type 1 is diagnosed when only the reproductive organs are affected. However, some individuals with MRKH syndrome also exhibit abnormalities in other parts of the body, leading to a diagnosis of MRKH syndrome type 2. This type may involve kidney malformations, such as abnormal positioning or the absence of one kidney (unilateral renal agenesis). Skeletal abnormalities, especially involving the spinal vertebrae, are also common. Additionally, individuals with MRKH syndrome type 2 may experience hearing loss or heart defects.

Inheritance:

In the majority of MRKH syndrome cases, there is no family history of the condition. However, in some instances, MRKH syndrome is inherited within families. The inheritance pattern is often difficult to determine due to the variable presentation of symptoms among affected family members. In certain families, the condition appears to follow an autosomal dominant inheritance pattern. This means that typically, only one copy of a mutated gene is necessary to cause the disorder, although the specific gene responsible is usually unidentified.